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    Research 691–720 of 734

    1. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    2. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    3. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    4. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    5. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    6. Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case Вопросы современной педиатрии · 2022 · 1 citations
    7. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy International Journal of Dermatology · 2012 · 13 citations
    8. The roles of collagen XVIII and its endostatin domain in wound healing, hair follicle cycling and bone development 2009 · 10 citations
    9. 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82 2020
    10. Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance Open Archive (Karolinska Institutet) · 2011
    11. Piecing together the pigment-type switching puzzle Pigment cell & melanoma research · 2009 · 10 citations
    12. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    13. Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene Journal of Dermatological Science · 1994 · 6 citations
    14. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    15. No difference in the proteome of racially and geometrically classified scalp hair sample from a South African cohort: Preliminary findings Journal of proteomics · 2020 · 4 citations
    16. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers Journal of Clinical Pathology · 2013 · 2 citations
    17. Time and depth resolved visualisation of the diffusion of a lipophilic dye into the hair follicle of fresh unfixed human scalp skin Journal of Controlled Release · 2004 · 36 citations
    18. Treatment of androgenetic alopecia with autologous CD200 positive cell suspension Turk Dermatoloji Dergisi · 2023
    19. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    20. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    21. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    22. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    23. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    24. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    25. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3 Genomics · 2004 · 34 citations
    26. Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene Journal of Veterinary Internal Medicine · 2009 · 30 citations
    27. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
    28. Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals Frontiers in Zoology · 2017 · 25 citations
    29. THY1-mediated mechanisms converge to drive YAP activation in skin homeostasis and repair Nature Cell Biology · 2022 · 23 citations
    30. Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene Archives of Dermatological Research · 2005 · 20 citations